C.J.J. Westermann

TL;DR: A diagnosis of HHT cannot be established in patients with only two criteria, but should be recorded as possible or suspected to maintain a high index of clinical suspicion and to be considered at risk in view of age-related penetration in this disorder.

TL;DR: The goal of this international HHT guidelines process was to develop evidence-informed consensus guidelines regarding the diagnosis of HHT and the prevention of H HT-related complications and treatment of symptomatic disease.

TL;DR: Genotype-phenotype analysis of HHT patients revealed differences between HHT1 and HHT2 and within HHT 1 and H HT2 between men and women, and genetic counselling can be given more accurately when the family mutation is known.

TL;DR: The identification of SMAD4 mutations in HHT patients without prior diagnosis of JP has significant and immediate clinical implications, as these people are likely to be at risk of having JP-HHT with the associated increased risk of gastrointestinal cancer.

TL;DR: The genetic and molecular heterogeneity found in the HHT population in the Netherlands is reported here on, with mutations detected were deletions, insertions, nonsense, missense and splice site mutations.